Paediatric Epilepsy Research

Annual Report 2011

youngepilepsy.org.uk
Paediatric Epilepsy Research I Young Epilepsy Annual Report 2011

About Young Epilepsy

Young Epilepsy is the national charity working exclusively on behalf of children and young
people with epilepsy aged 25 years and under. With over 100 years expertise it provides world
class diagnosis, assessment and rehabilitation for children and young people with epilepsy.
The charity also operates internationally renowned research programme co-ordinated by
Professor Helen Cross, the Prince of Wales’s Chair of Childhood Epilepsy. Young Epilepsy has
a specialist school and college, providing day, residential and short break services for children
and young people with epilepsy, autism and other neurological conditions.
Young Epilepsy aims to achieve better futures for young lives with epilepsy and to raise
awareness and understanding of epilepsy and issues associated with the condition. The
charity provides support and information for parents, children and young people and
training for professionals. It campaigns for better access to, and quality of, health and
education services. We offer tailor-made training across the country for parents, teenagers
and health, social care and education professionals and also work in schools.

Introduction
It is with great pleasure that I introduce our research report for 2011
for the epilepsy unit across UCL-Institute of Child Health, Great
Ormond Street Hospital & Young Epilepsy.
Our research continues to focus on all aspects of childhood epilepsy
looking toward optimising outcomes in children with epilepsy. New
projects initiated over the past year have included a genetic study
examining a possible genetic basis to treatment outcome with the
ketogenic diet, a study assessing the feasibility and utility of EEG-
fMRI in the presurgical evaluation of children with drug resistant focal
epilepsy, and a newly-funded study to evaluate the role of sleep in learning and memory
consolidation in children with focal epilepsy. 
We have secured new grant monies totalling £510,868 over this period. Further, we have
as a unit been responsible for 44 peer reviewed publications of primary research, and 10
publications including reviews and commentaries of expert opinion.
We hosted our second annual research retreat for researchers and collaborators in January,
moderated by Professor Solomon Moshé from New York. Here, many of our projects were
presented and discussed enabling further ideas to be explored.
Over the last 12 months we unfortunately said goodbye to Professor Charles Newton who
moved to Oxford and Dr Richard Chin who moved to Edinburgh. They however continue to
collaborate on many projects. We also welcomed Dr Manju Kurian, Clinician Scientist, who
will further our research into the genetics of early onset epileptic encephalopathies.
Our aim over the next year is to widen our focus of research into education; to look at
interventions that may improve outcomes following on from research into underlying
mechanisms of cognitive dysfunction.
Professor Helen Cross
The Prince of Wales’s Chair of Childhood Epilepsy
 Paediatric Epilepsy Research I Young Epilepsy Annual Report 2011

Research Strategy for Childhood Epilepsy

UCL-Institute of Child Health,
Great Ormond Street Hospital and Young Epilepsy
The overriding goal of epilepsy research within this joint unit is to enable a better
long outcome and to reduce the overall burden for children with epilepsy. The unit -
encompassing the UCL-Institute of Child Health, Great Ormond Street Hospital for Children
and Young Epilepsy - is in a unique position of incorporating review of children with a
range of severity from newly diagnosed to complex. Further collaboration across UCL
allows continuation of work into adulthood, allowing study across the whole age range. The
educational and behavioural expertise within Young Epilepsy allows interventional study
beyond medical treatment.

Research Partners
UCL Institute of Child Health
UCL Institute of Child Health (ICH) is one of the world’s pioneering paediatric research
centres and represents the largest concentration of people dedicated to advancing
paediatrics outside of the United States.
ICH pursues an integrated, multidisciplinary approach to enhance understanding, diagnosis,
therapy and prevention of childhood disease. A broad range of paediatric issues is covered,
from molecular genetics to population health sciences. All specialties as they relate to
children’s health are included so that ICH fulfils the role of a world-leading academic
establishment in paediatrics. 
In keeping with a commitment to disease prevention, ICH is active in teaching and research
aimed at developing interventions to promote health both during childhood and in the later
years of life.

Great Ormond Street Hospital for Children

Great Ormond Street Hospital (GOSH) is an international centre of excellence in child
healthcare. The hospital is dedicated to children’s healthcare and to finding new and better
ways to treat childhood illnesses. There are more than 50 different clinical specialties at
GOSH.
GOSH is also at the forefront of paediatric training in the UK
and trains more children’s nurses than any other hospital.
They also play a leading role in training paediatric doctors.
The hospital is committed to carrying out pioneering research
to find treatments and cures for some of the most complex
illnesses, for the benefit of children here in the UK and worldwide.

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Paediatric Epilepsy Research I Young Epilepsy Annual Report 2011

Research Update
Below is a brief update on the research projects being carried out within the unit:

The impact of reducing anti-epileptic drug load on quality of life in children with
refractory epilepsy

Project Aim: To prospectively determine the effect of reducing Anti-Epileptic Drug (AED)
load on the quality of life and seizure control in children with refractory epilepsy who are on
AED polytherapy

Investigators: Rod Scott, Krishna Das, Suresh Pujar, Archana Desurkar, Kirsten McHale,
Brian Neville

Update: Recruitment of research participants from St Piers School and College at Young
Epilepsy is underway.

Educational problems of children with epilepsy: their identification and

management

Project Aim: To determine the prevalence of learning and behaviour difficulties in school-
age children with epilepsy

Investigators: Brian Neville, Colin Reilly, Patricia Atkinson, Rod Scott, Victoria Burch,
Paul McCrone, Richard Chin, Sarah Aylett, Krishna Das, Dame Philippa Russell,
Christopher Gillberg

Update: The Educational Psychologist is in post and the initial screening and detailed
assessments is in progress.

Prevalence and clinical outcome of

Rasmussen Encephalitis in children

Project Aim: To collate information on the

prevalence, symptomology, management
and outcome of children with Rasmussen
syndrome in the UK

Investigators: Kate Lamb, Robert Robinson,

Helen Cross

Update: Information is being collated from

clinicians across the UK who report through
the British Paediatric Neurology Surveillance
Unit (BPNSU) who have managed or are
currently managing a child with Rasmussen
Encephalitis.

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 Paediatric Epilepsy Research I Young Epilepsy Annual Report 2011

Research Update
Beyond IQ: Cognitive-behavioural profiles of children with complex epilepsy and
intellectual disability

Project Aim: To establish whether age- and IQ-matched groups of young people with
mild-to-moderate intellectual disability (ID) and complex focal (FE) or generalised epilepsy
(GE) would perform differently on cognitive tasks of executive function, everyday memory,
and social communication.

Investigators: Sara Shavel-Jessop, Chris Barker, Peter Rankin, Sarah Aylett

Update: The project has been completed and is being written up for publication.
It is suggested, on the basis of the findings of this study, that having focal or generalised
epilepsy does not appear to differentially affect performance on a range of specific and
general ability tasks in young people with mild-to-moderate intellectual disability. The study
also demonstrates the utility of standardised age-appropriate assessment in this population,
and supports its wider use in research and clinical practice.

Epilepsy genomics in childhood: finding the causes, directing treatment

Project Aim: To investigate whether some children have a genetic predisposition to

epilepsy, and if this is common in certain types of epilepsy

Investigators: Anna Tostevin, Helen Cross, Sanjay M. Sisodiya

Update: Data collection is underway. Over 150 participants have so far been recruited.
So far there has been a 10% rate of abnormality detected.

Sleep and memory in children with focal epilepsy

Project Aim: To evaluate the role of sleep in learning (specifically memory consolidation)
in children with different types of focal epilepsy, and determine whether this is disrupted
compared to healthy children

Investigators: Samantha Chan, Torsten Baldeweg, Stewart Boyd, Rod Scott, Krishna Das,
Ronit Pressler, Helen Cross

Update: The initial year funding has been secured for the research fellow who will be in post
from March 2012.

The encephalopathy of infantile spasms

Project Aim: To describe the encephalopathy of infantile

spasms using ERPs and MRIs with controls

Investigators: Brian Neville, Rod Scott, Stewart Boyd, Tang Fosi

Update: This is now being written up with important findings.

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Paediatric Epilepsy Research I Young Epilepsy Annual Report 2011

Research Update
A genetic basis for response to the Ketogenic Diet

Project Aim: To determine whether there is a genetic basis to treatment outcome with the
Ketogenic Diet in drug-resistant epilepsy

Investigators: Natasha Payne, Helen Cross, Sanjay M. Sisodiya

Update: Recruitment of research participants is underway from Great Ormond Street

Hospital, Evelina Children’s Hospital, Young Epilepsy (in conjunction with Matthew’s
Friends), The National Hospital for Neurology and Neurosurgery and Birmingham Children’s
Hospital. R&D approval has also been obtained for St George’s, Addenbrooke’s and Bristol,
where recruitment is to begin shortly.

Elucidation of the Biochemical Mechanisms Responsible for the Efficacy of the

Ketogenic Diet

Project Aim: To determine changes seen in medium chain fatty acids in children treated with
the ketogenic diet, and determine their possible role in the underlying mechanism of effect

Investigators: Sean Hughes, Helen Cross, Simon Heales

Update: Research participants will be recruited from Great Ormond Street Hospital from
March 2012.

The effect of a child’s epilepsy on sibling quality of life

Project Aim: To access how having a brother or sister with epilepsy affects a child’s quality
of life compared to siblings of children who have a neurological disorder other than epilepsy

Investigators: Sanam Memon, Krishna Das, Victoria Burch, Richard Chin

Update: The project has been completed and is being written up for publication.
Sanam Memon was awarded The Association of Physicians Elective Prize in July 2011
from the University of Aberdeen for this project. This is awarded to a student who submits
a project that has achieved a high standard of excellence. Results from this preliminary
study did not show any significant difference between cases and controls. Learning
disability and behavioural difficulties were reported as the main cause of worry for siblings
rather than seizures.

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Research Update
The spectrum of epileptic spasms in children

Project Aim: Retrospective study to evaluate the range of phenotype of epileptic spasms in
children captured on video-EEG

Investigators: Daniel Carranza, Helen Cross, Ingrid Scheffer

Update: This is a collaborative study with investigators from Melbourne, Australia. Over 600
cases have been exclusively confirmed on video-EEG from a wide retrospective cohort of
children with epileptic spasms from the UK and Australia. The reviewed data shows a wide
age distribution with a significant proportion (15%) of non-infantile onset spasms (>1year
old at onset). Newly described etiologies, particularly subtle structural lesions and genetic
causes, are represented in a small proportion of cases.

Long term outcomes of childhood status epilepticus

Project Aim:  To characterise the prevalence, nature and structural substrates of epilepsy
5-10 years after an episode of convulsive epilepticus in childhood and to identify early
predictors of who will develop epilepsy

Investigators: Suresh Pujar, Rod Scott, Chris Clark, Michelle de Haan, Kling Chong, Brian
Neville, Richard Chin

Update: Preliminary results is showing that the mortality within 10 years following
convulsive status epilepticus (CSE) is substantial, presence of prior neurological impairment
being the main determinant, but the outcome is good in children with no neurological
impairments before the episode of CSE.

Improving epilepsy surgery in childhood

using fMRI and EEG

Project Aim: To have a better understanding

of the feasibility and the utility of EEG-fMRI
in the presurgical evaluation of children with
drug resistant focal epilepsy

Investigators: David Carmichael, Chris

Clark, Jonathan Clayden, Ronit Pressler,
Helen Cross

Update: This project is in collaboration

with the Department of Biochemistry, UCL-
ICH. Research participants will be recruited
from Great Ormond Street Hospital from
March 2012.

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Paediatric Epilepsy Research I Young Epilepsy Annual Report 2011

The Research Team

The research team contribute to a wide spectrum of activities from basic science through
to patient care and consists of a multidisciplinary range of experts working across UCL-
Institute of Child Health, Great Ormond Street Hospital for Children and Young Epilepsy.

Principal investigators

Professor Helen Cross The Prince of Wales’s Chair of Childhood Epilepsy

Professor Christopher Gillberg Visiting Professor in Child and Adolescent Psychiatry
Dr Manju Kurian Consultant and Clinician Scientist
Professor Brian Neville Emeritus Professor of Childhood Epilepsy
Dr Ronit Pressler Consultant and Honorary Senior Lecturer in Clinical Neurophysiology
Dr Rod Scott Reader in Paediatric Neuroscience

PhD students
Alex Bender (jointly with Dartmouth College) – Neurophysiological mechanisms of
cognitive impairments in Dravet Syndrome
Samantha Chan – Sleep and memory in children with focal epilepsy
Ben Duffy – Experimental Imaging Studies Post-Status Epilepticus
Tang Fosi – The neurological basis for cognitive and autistic regression in infants with West
syndrome (infantile spasms)
Amanda Hernan (jointly with Dartmouth College) – The effects of early life seizures on
short term plasticity in the prefrontal cortex
Sean Hughes (jointly with Biochemistry, ICH) – Elucidation of the Biochemical
Mechanisms Responsible for the Efficacy of the Ketogenic Diet
Jonathan Kleen (jointly with Dartmouth College) – Characteristics and mechanisms of
cognitive impairment in epilepsy. (MD/PhD). Awarded 2011. Currently completing medical training
Marcella Lucas (jointly with Dartmouth College) – Mechanisms of cognitive impairment
in rats with malformations of cortical development
Natasha Payne (jointly with ION) – A Genetic Basis for Response to the Ketogenic Diet
in Epilepsy
Suresh Pujar – The outcomes 5-10 years after childhood convulsive status epilepticus:
a population based study
Ali Titiz (jointly with Dartmouth College) – The impact of epileptic discharges on
memory consolidation during sleep
Michael Yoong – The consequences and outcomes of convulsive status epilepticus
in childhood

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 Paediatric Epilepsy Research I Young Epilepsy Annual Report 2011

The Research Team

Research staff

Daniel Carranza Clinical/Research Fellow

Antonietta Coppola Research Fellow
Havinder Hara NEMO Coordinator
Marina Martinos Postdoctoral Neuropsychologist
Kirsten McHale Research Nurse
Amy Mctague Clinical/Research Fellow
Angela Mensah Research Coordinator
Esther Meyer Research Fellow
Colin Reilly Research Psychologist
Anna Tostevin Research Assistant

Clinicians in neuroscience active in epilepsy research

Dr Patricia Atkinson Consultant Community Paediatrician

Dr Sarah Aylett Consultant Paediatric Neurologist
Dr Stewart Boyd Consultant Neurophysiologist
Mr Aabir Chakraborty Consultant Paediatric Neurosurgeon
Dr Maria Clark Consultant Paediatric Neurologist
Dr Krishna Das Consultant Paediatric Neurologist
Dr Archana Desurkar Consultant Paediatric Neurologist
Dr Christin Eltze Consultant Paediatric Neurologist
Mr William Harkness Consultant Paediatric Neurosurgeon
Dr Cheryl Hemingway Consultant Paediatric Neurologist
Dr Robert Robinson Consultant Paediatric Neurologist
Dr Sophia Varadkar Consultant Paediatric Neurologist

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Paediatric Epilepsy Research I Young Epilepsy Annual Report 2011

Epilepsy Research Retreat

The Epilepsy Research Retreat serves as an annual get together of researchers and
collaborators across the unit. This has followed models from other centres around the world
and gives researchers the opportunity to discuss ongoing projects, completed projects and
possible future directions of research.

The 2012 research retreat took place on 26-27 January at Alexander House Hotel in East
Grinstead with Professor Solomon Moshé as the moderator. Professor Moshé is Professor of
Neurology, Neuroscience & Paediatrics at Einstein College of Medicine, New York as well as
the current President of the International League Against Epilepsy (ILAE). The meeting brought
together 70 researchers from Young Epilepsy, UCL-Institute of Child Health, UCL-Institute of
Neurology, Great Ormond Street Hospital and Dartmouth College, USA. 

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 Paediatric Epilepsy Research I Young Epilepsy Annual Report 2011

Epilepsy Research Retreat

There were presentations on 23 of the projects taking place across the unit ranging from
neuropathology to neuroimaging, genetics to academic achievement as well as results
of animal work from our collaborators in Dartmouth. Discussions at the end of each
presentation gave investigators the opportunity to receive comments and feedback from
fellow researchers and principal investigators.

The retreat also proved to be a highly social occasion. This aside, it successfully highlighted
the breadth of epilepsy research being undertaken across the unit and also served as a way
of motivating young researchers who may not have previously had the opportunity to meet
other members of the unit.

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Paediatric Epilepsy Research I Young Epilepsy Annual Report 2011

Publications - 2011
Peer Reviewed Publications

1. Cormack F, Vargha-Khadem F, Wood SJ, Cross JH, Baldeweg T. Memory in paediatric temporal lobe
epilepsy: Effects of lesion type and side. Epilepsy Res. 2011 Oct 29. [Epub ahead of print].

2. D’Argenzio L, Colonnelli MC, Harrison S, Jacques TS, Harkness W, Vargha-Khadem F, Scott RC,
Cross JH. Cognitive outcome after extratemporal epilepsy surgery in childhood. Epilepsia. 2011 Nov;
52(11):1966-72.

3. Gaillard WD, Cross JH, Duncan JS, Stefan H, Theodore WH; Task Force on Practice Parameter Imaging
Guidelines for International League Against Epilepsy, Commission for Diagnostics. Epilepsy imaging study
guideline criteria: commentary on diagnostic testing study guidelines and practice parameters. Epilepsia.
2011 Sep;52(9):1750-6.

4. Catarino CB, Liu JY, Liagkouras I, Gibbons VS, Labrum RW, Ellis R, Woodward C, Davis MB, Smith SJ,
Cross JH, Appleton RE, Yendle SC, McMahon JM, Bellows ST, Jacques TS, Zuberi SM, Koepp MJ,
Martinian L, Scheffer IE, Thom M, Sisodiya SM. Dravet syndrome as epileptic encephalopathy: evidence
from long-term course and neuropathology. Brain. 2011 Oct;134(Pt 10):2982-3010.

5. Illingworth MA, Hanrahan D, Anderson CE, O’Kane K, Anderson J, Casey M, de Sousa C,

Cross JH, Wright S, Dale RC, Vincent A, Kurian MA. Elevated VGKC-complex antibodies in a boy with
fever-induced refractory epileptic encephalopathy in school-age children (FIRES). Dev Med Child Neurol.
2011 Nov;53(11):1053-7.

6. Skirrow C, Cross JH, Cormack F, Harkness W, Vargha-Khadem F, Baldeweg T. Long-term intellectual

outcome after temporal lobe surgery in childhood. Neurology. 2011 Apr 12;76(15):1330-7.

7. Riney CJ, Chong WK, Clark CA, Cross JH. Voxel based morphometry of FLAIR MRI in children with
intractable focal epilepsy: Implications for surgical intervention. Eur J Radiol. 2011 Jan 15. [Epub ahead of
print].

8. Cross JH. Epilepsy in the WHO European region: fostering epilepsy care in Europe. Epilepsia. 2011
Jan;52(1):187-8.

9. Blauwblomme T, Ternier J, Romero C, Pier KS, D’Argenzio L, Pressler R, Cross H, Harkness W. Adverse
events occurring during invasive electroencephalogram recordings in children. Neurosurgery. 2011
Dec;69(2 Suppl Operative):ons169-75; discussion ons175.

10. Chan S, Baldeweg T, Cross JH. A role for sleep disruption in cognitive impairment in children with
epilepsy. Epilepsy and Behaviour 2011;20:435-440.

11. Burton K, Rogathe J, Whittaker RG, Mankad K, Hunter E, Burton MJ, Todd J, Neville BG, Walker R,
Newton CR. Co-morbidity of epilepsy in Tanzanian children: A community-based case-control study.
Seizure. 2011 Nov 28. [Epub ahead of print]

12. Kariuki SM, Abubakar A, Holding PA, Mung’ala-Odera V, Chengo E, Kihara M, Neville BG, Newton CR.
Behavioral problems in children with epilepsy in rural Kenya. Epilepsy Behav. Epub 2011 Nov 26.

13. Burton K, Rogathe J, Hunter E, Burton M, Swai M, Todd J, Neville B, Walker R, Newton C. Behavioural
comorbidity in Tanzanian children with epilepsy: a community-based case-control study. Dev Med Child
Neurol. 2011 Dec;53(12):1135-42.

14. Fons C, Campistol J, Panagiotakaki E, Giannotta M, Arzimanoglou A, Gobbi G, Neville B, Ebinger F,

Nevšímalová S, Laan L, Casaer P, Spiel G, Ninan M, Sange G, Artuch R, Schyns T, Vavassori R,
Poncelin D; ENRAH Consortium. Alternating hemiplegia of childhood: metabolic studies in the largest
European series of patients. Eur J Paediatr Neurol. Epub 2011 Sep 25.
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 Paediatric Epilepsy Research I Young Epilepsy Annual Report 2011

Publications - 2011
15. Pujar SS, Neville BG, Scott RC, Chin RF; North London Epilepsy Research Network. Death within
8 years after childhood convulsive status epilepticus: a population-based study. Brain. 2011 Oct;134
(Pt 10):2819-27.

16. Monjauze C, Broadbent H, Boyd SG, Neville BG, Baldeweg T. Language deficits and altered
hemispheric lateralization in young people in remission from BECTS. Epilepsia. 2011 Aug;52(8):e79-83.

17. Reilly, C. & Ballantine, R. (2011). Epilepsy in school-aged children: More than just seizures?, Support for
Learning, 26(4), 144-151.

18. Kleen JK, Wu EX, Holmes GL, Scott RC, Lenck-Santini PP. Enhanced oscillatory activity in the
hippocampal-prefrontal network is related to short-term memory function after early-life seizures.
J Neurosci. 2011 Oct 26;31(43):15397-406.

19. Holmes GL, Bender AC, Wu EX, Scott RC, Lenck-Santini PP, Morse RP. Maturation of EEG oscillations in
children with sodium channel mutations. Brain Dev. 2011 Sep 20. [Epub ahead of print]

20. Kleen JK, Sesqué A, Wu EX, Miller FA, Hernan AE, Holmes GL, Scott RC. Early-life seizures produce
lasting alterations in the structure and function of the prefrontal cortex. Epilepsy Behav. 2011
Oct;22(2):214-9.

21. Chin RF, Cumberland PM, Pujar SS, Peckham C, Ross EM, Scott RC. Outcomes of childhood epilepsy at
age 33 years: a population-based birth-cohort study. Epilepsia. 2011 Aug;52(8):1513-21.

22. Lucas MM, Lenck-Santini PP, Holmes GL, Scott RC. Impaired cognition in rats with cortical dysplasia:
additional impact of early-life seizures. Brain. 2011 Jun;134(Pt 6):1684-93.

23. Mohamed BP, Scott RC, Desai N, Gutta P, Patil S. Seizure outcome in infantile spasms--a retrospective
study. Epilepsia. 2011 Apr;52(4):746-52.

24. Scott RC, Richard GR, Holmes GL, Lenck-Santini PP. Maturational dynamics of hippocampal place cells
in immature rats. Hippocampus. 2011 Apr;21(4):347-53.

25. Anckarsäter, H., Hofvander, B., Billstedt, E., Gillberg, I. C., Gillberg, C., Wentz, E., & Rastam, M. (2011).
The sociocommunicative deficit subgroup in anorexia nervosa: autism spectrum disorders and
neurocognition in a community-based, longitudinal study. Psychological Medicine (Epub ahead of print).

26. Campbell, M., Reynolds, L., Cunningham, J., Minnis, H. ,Gillberg, C.G. (2011) Autism in Glasgow:
cumulative incidence and the effects of referral age, deprivation and geographical location. Child: Care,
Health and Development, (Epub ahead of print). GUP 148109

27. Nygren G, Cederlund M, Sandberg E, Gillstedt F, Arvidsson T, Carina Gillberg I, Westman Andersson G,
Gillberg C. The Prevalence of Autism Spectrum Disorders in Toddlers: A Population Study of 2-Year-Old
Swedish Children. J Autism Dev Disord. 2011 Nov 3.

28. Casey JP, Magalhaes T, Conroy JM, Regan R, et al. A novel approach of homozygous haplotype sharing
identifies candidate genes in autism spectrum disorder. Hum Genet. 2011 Oct 14.

29. Fernell E, Hedvall Å, Westerlund J, Höglund Carlsson L, Eriksson M, Barnevik Olsson M, Holm A,
Norrelgen F, Kjellmer L, Gillberg C. Early intervention in 208 Swedish preschoolers with autism spectrum
disorder. A prospective naturalistic study. Res Dev Disabil. 2011 Nov;32(6):2092-101.

30. Ullebø AK, Posserud MB, Heiervang E, Gillberg C, Obel C. Screening for the attention deficit hyperactivity
disorder phenotype using the strength and difficulties questionnaire. Eur Child Adolesc Psychiatry. 2011
Sep;20(9):451-8.

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Publications - 2011
31. Lindblad I, Gillberg C, Fernell E. ADHD and other associated developmental problems in children with
mild mental retardation. The use of the “Five-To-Fifteen” questionnaire in a population-based sample. Res
Dev Disabil. 2011 Nov;32(6):2805-9.

32. Kopp S, Gillberg C. The Autism Spectrum Screening Questionnaire

(ASSQ)-Revised Extended Version (ASSQ-REV): an instrument for better capturing the autism phenotype
in girls? A preliminary study involving 191 clinical cases and community controls. Res Dev Disabil. 2011
Nov;32(6):2875-88.

33. Chaste P, Clement N, Botros HG, Guillaume JL, Konyukh M, Pagan C, Scheid I, Nygren G, Anckarsäter H,
Rastam M, Ståhlberg O, Gillberg IC, Melke J, Delorme R, Leblond C, Toro R, Huguet G, Fauchereau F,
Durand C, Boudarene L, Serrano E, Lemière N, Launay JM, Leboyer M, Jockers R, Gillberg C,
Bourgeron T. Genetic variations of the melatonin pathway in patients with attention-deficit and
hyperactivity disorders. J Pineal Res. 2011 Nov;51(4):394-9.

34. Lugnegård T, Hallerbäck MU, Gillberg C. Psychiatric comorbidity in young adults with a clinical diagnosis
of Asperger syndrome. Res Dev Disabil. 2011 Sep-Oct;32(5):1910-7.

35. Sivertsen B, Posserud MB, Gillberg C, Lundervold AJ, Hysing M. Sleep Problems in Children With Autism
Spectrum Problems: A Longitudinal Population-Based Study. Autism. 2011 Apr 8.

36. Konyukh M, Delorme R, Chaste P, Leblond C, Lemière N, Nygren G, Anckarsäter H, Rastam M,

Ståhlberg O, Amsellem F, Gillberg IC, Mouren-Simeoni MC, Herbrecht E, Fauchereau F, Toro R,
Gillberg C, Leboyer M, Bourgeron T. Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2
in patients with autism spectrum disorders and in human populations. PLoS One. 2011 Mar 4;6(3):e17289.

37. Bremer A, Giacobini M, Eriksson M, Gustavsson P, Nordin V, Fernell E, Gillberg C, Nordgren A,

Uppströmer A, Anderlid BM, Nordenskjöld M, Schoumans J. Copy number variation characteristics in
subpopulations of patients with autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet.
2011 Mar;156(2):115-24.

38. Wing L, Gould J, Gillberg C. Autism spectrum disorders in the DSM-V: better or worse than the DSM-IV?
Res Dev Disabil. 2011 Mar-Apr;32(2):768-73.

39. Lundervold AJ, Posserud MB, Ullebø AK, Sørensen L, Gillberg C. Teacher reports of hypoactivity
symptoms reflect slow cognitive processing speed in primary school children. Eur Child Adolesc
Psychiatry. 2011 Mar;20(3):121-6.

40. Klintwall L, Holm A, Eriksson M, Carlsson LH, Olsson MB, Hedvall A, Gillberg C, Fernell E. Sensory
abnormalities in autism. A brief report. Res Dev Disabil. 2011 Mar-Apr;32(2):795-800.

41. Wilson P, Puckering C, McConnachie A, Marwick H, Reissland N, Gillberg C. Inexpensive video cameras
used by parents to record social communication in epidemiological investigations in early childhood-A
feasibility study. Infant Behav Dev. 2011 Feb;34(1):63-71.

42. Andersson, G.B., Gillberg C., Fernell, E., Johansson, M., & Nachemson, A. (2011). Children with surgically
corrected hand deformities and upper limb deficiencies: self-concept and psychological well-being. The
Journal of Hand Surgery European Volume, 36, 795-801.

43. Billstedt, E., Gillberg, I.C., & Gillberg C. (2011). Aspects of quality of life in adults diagnosed with autism
in childhood: a population-based study. Autism, 15, 7-20.

44. Hofvander, B., Ståhlberg, O., Nydén, A., Wentz, E., degl’Innocenti, A., Billstedt, E., et al (2011). Life History
of Aggression scores are predicted by childhood hyperactivity, conduct disorder, adult substance abuse,
and low cooperativeness in adult psychiatric patients. Psychiatry Research, 185, 280-285.

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Publications - 2011
Guidelines/Reviews/Editorials/Letters

1. Payne NE, Cross JH, Sander JW, Sisodiya SM. The ketogenic and related diets in adolescents and
adults--a review. Epilepsia. 2011 Nov;52(11):1941-8. Review.

2. Granata T, Cross H, Theodore W, Avanzini G. Immune-mediated epilepsies. Epilepsia. 2011 May;

52 Suppl 3:5-11.

3. Kurian MA, Gissen P, Smith M, Heales S Jr, Clayton PT. The monoamine neurotransmitter disorders: an
expanding range of neurological syndromes. Lancet Neurol. 2011 Aug;10(8):721-33.

4. Kurian MA, McNeill A, Lin JP, Maher ER. Childhood disorders of neurodegeneration with brain iron
accumulation (NBIA). Dev Med Child Neurol. 2011 May;53(5):394-404. Review.

5. Reilly C, Neville BG. Academic achievement in children with epilepsy: a review. Epilepsy Res. 2011
Nov;97(1-2):112-23.

6. Reilly C, Agnew R, Neville BG. Depression and anxiety in childhood epilepsy: a review. Seizure. 2011
Oct;20(8):589-97.

7. Reilly, C. (2011). ADHD in Childhood epilepsy: A review. Research in Developmental Disabilities, 32(3),
883-893.

8. Pritchett R, Kemp J, Wilson P, Minnis H, Bryce G, Gillberg C. Quick, simple measures of family
relationships for use in clinical practice and research. A systematic review. Fam Pract. 2011 Apr;28(2):
172-87.

9. Cross JH, Kossoff EH. Dietary treatments: The road from Phoenix to Edinburgh. Epilepsy Res. 2011 Sep
26. [Epub ahead of print].

10. Kossoff EH, Cross JH. Ketogenic diets: Where do we go from here? Epilepsy Res. 2011 Aug 17.
[Epub ahead of print].

Chapters in Books

1. Gillberg, C., Gillberg, I.C., Anckarsäter, H., & Råstam, M. (2011). Overlap between ADHD And
autism spectrum disorders in adults. In: J.K. Buitelaar, C.C. Kan & P. Asherson (Eds,). ADHD in Adults.
Characterization, Diagnosis, and Treatment (pp.157-167). Cambridge: Cambridge University Press.

2. Gillberg, C. (2011.) Diagnostic Systems. In: J.L Matson & P. Sturmey (Eds.), International Handbook of
Autism and Pervasive Developmental Disorders, (pp.17-24). New York: Springer.

3. Coleman, M. & Gillberg, C. (2011). The Autisms, (4th ed.). Oxford University Press. In Press.

4. D’Argenzio L, Cross JH. ‘Hippocampal Sclerosis & Dual Pathology’ In Wyllie’s The Treatment of Epilepsy:
Principles & Practice. 5th Ed Wyllie E, Gidal B, Cascino G, Goodkin H Lippincott, Williams & Wilkins,
p332-338.

5. Tuxhorn I, Cross JH. ‘Risks and hazards of epilepsy’ In Childhood epilepsy: from diagnosis to remission’
ed R Appleton, P Camfield, Cambridge University Press, 2011 p108-125.

6. Duchowny M, Cross JH ‘Pre-operative evaluation in children’ In Handbook of Clinical Neurology: Epilepsy

ed H Stefan W Theodore Elsevier in press.

7. Cross JH, Guerrini R ‘Epileptic Encephalopathies’ In Handbook of Clinical Neurology: Paediatric

Neurology ed O Dulac, H Sarnat, M Lassonde Elsevier in press.

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